Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3717153017 | White Sutton syndrome (disorder) | en | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3717154011 | White Sutton syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 6928331000146110 | WHSUS | nl | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 6928341000146119 | syndroom van White-Sutton | nl | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 6928351000146116 | MRD37 | nl | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 6928371000146112 | White-Sutton-syndroom | nl | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 10672971000146119 | White-Sutton-syndroom (aandoening) | nl | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 3716697013 | Syndrome with manifestations of borderline normal to severe intellectual disability. Most affected individuals have autism spectrum disorder (ASD), which can occur with characteristics that are unusual in people with ASD, such as an overly friendly demeanor. Other characteristics include delayed development, microcephaly, brachycephaly, hypertelorism, midface hypoplasia, small mouth with a thin upper lip. Diaphragmatic hernia is present in some cases. Caused by mutations in the POGZ gene. POGZ gene mutations are thought to impair the ability of the POGZ protein to bind to chromatin, leading to abnormal gene expression that affects development of the brain and other body systems. May be inherited in an autosomal dominant pattern, however most cases result from de novo mutations in the gene. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| White Sutton syndrome (disorder) | Is a | Intellectual disability | true | Inferred relationship | Some | ||
| White Sutton syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| White Sutton syndrome (disorder) | Interprets | Intellectual ability (observable entity) | true | Inferred relationship | Some | 2 | |
| White Sutton syndrome (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 2 | |
| White Sutton syndrome (disorder) | Interprets | Adaptation behavior (observable entity) | true | Inferred relationship | Some | 3 | |
| White Sutton syndrome (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 3 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
FHIR